molecular study of methylenetetrahyrofolate reductase gene in mothers of standard down syndrome patients

The observation that a lot of children with Down syndrome are born to mothers with young age made it important to identify the mechanisms involved in this young age group. It was found that DNA hypomethylation is associated with chromosomal instability and abnormal chromosome segregation. This knowledge led to the clarification of the role of enzymes involving in the methylation reaction like Methylene Tetrahydrofolate Reductase enzyme [MTHFR]. The C-T common polymorphism at nucleotide 677 [C677T], which results into an alanine to valine substitution in the MTHFR protein, caused higher thermolability and reduced enzyme activity in lymphocyte extracts. In order to verify this association, we studied the presence of the C677T polymorphism of the MTHFR gene in 50 mothers of Down syndrome children and 50 control mothers. A non-significant higher incidence of the mutant T allele in Down syndrome children mothers [6%] than in control [2%] was detected. These results do not support the presence of an increased risk of Down syndrome mothers carriers of the T allele in Egyptian population

Study of cytogenetic biomarkers in human fascioliasis and triclabendazole treatment

The cytogenetic effect of triclabendazole, an anti-helminthic drug used for the treatment of human fascioliasis, was evaluated in the peripheral blood lymphocytes of 30 patients with Fasciola hepatica before and after treatment with the drug. The number of cells with chromosomal aberrations and sister chromatid exchanges did not show any statistically significant differences in the patients, either before treatment when compared with the control or after triclabendazole therapy. Based on the results of the present study, data indicated that infection with Fasciola hepatica does not increase the chromosomal aberrations or sister chromatid exchanges and the genotoxic effect of triclabendazole indicated that the drug is not a mutagenic agent and could be used safely in therapeutic doses for the treatment of human fascioliasis